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NM_002230.4(JUP):c.1247C>T (p.Ser416Phe) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003167538.1

Allele description [Variation Report for NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)]

NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)

Gene:
JUP:junction plakoglobin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)
HGVS:
  • NC_000017.11:g.41763233G>A
  • NG_009090.2:g.28480C>T
  • NM_001352773.2:c.1247C>T
  • NM_001352774.2:c.1247C>T
  • NM_001352775.2:c.1247C>T
  • NM_001352776.2:c.1247C>T
  • NM_001352777.2:c.1247C>T
  • NM_002230.4:c.1247C>TMANE SELECT
  • NM_021991.4:c.1247C>T
  • NP_001339702.1:p.Ser416Phe
  • NP_001339703.1:p.Ser416Phe
  • NP_001339704.1:p.Ser416Phe
  • NP_001339705.1:p.Ser416Phe
  • NP_001339706.1:p.Ser416Phe
  • NP_002221.1:p.Ser416Phe
  • NP_002221.1:p.Ser416Phe
  • NP_068831.1:p.Ser416Phe
  • NP_068831.1:p.Ser416Phe
  • LRG_401t1:c.1247C>T
  • LRG_401t2:c.1247C>T
  • LRG_401:g.28480C>T
  • LRG_401p1:p.Ser416Phe
  • LRG_401p2:p.Ser416Phe
  • NC_000017.10:g.39919485G>A
  • NM_002230.2:c.1247C>T
  • NM_021991.2:c.1247C>T
Protein change:
S416F
Molecular consequence:
  • NM_001352773.2:c.1247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352774.2:c.1247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352775.2:c.1247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352776.2:c.1247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352777.2:c.1247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002230.4:c.1247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021991.4:c.1247C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003857616Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Jan 22, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003857616.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.S416F variant (also known as c.1247C>T), located in coding exon 7 of the JUP gene, results from a C to T substitution at nucleotide position 1247. The serine at codon 416 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024